Canonical Allele Identifier: CA377361740
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276411G>T , CM000672.2:g.80276411G>T GRCh38
NC_000010.10:g.82036167G>T , CM000672.1:g.82036167G>T GRCh37
NC_000010.9:g.82026147G>T NCBI36
NG_008083.1:g.18268C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.733C>A MANE Select ENSP00000361287.3:p.Gln245Lys
ENST00000372213.7:c.733C>A ENSP00000361287.3:p.Gln245Lys
NM_000429.2:c.733C>A NP_000420.1:p.Gln245Lys
XM_005269842.3:c.733C>A XP_005269899.1:p.Gln245Lys
XM_005269843.3:c.610C>A XP_005269900.1:p.Gln204Lys
NM_000429.3:c.733C>A MANE Select NP_000420.1:p.Gln245Lys